ACSL4

acyl-CoA synthetase long chain family member 4
OMIM: 300157, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red ACSL4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS PAGE DD-Gene2Phenotype Phenotypes Mental retardation, X-linked 63 , OMIM:300387
Green ACSL4 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
Green ACSL4 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 63, OMIM:300387 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263 Tags Skewed X-inactivation
Red ACSL4 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Long-chain fatty acid-CoA ligase 4 deficiency Mental retardation Autistic features Intellectual disability